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What are the signs and symptoms of Fragile X syndrome?

Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty.[1]

The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X syndrome.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Cognitive impairment

90%

Joint hypermobility

90%

Macroorchidism

90%

Neurological speech impairment

90%

Otitis media

90%

Pes planus

90%

Abnormality of the pinna

50%

Attention deficit hyperactivity disorder

50%

Frontal bossing

50%

Intellectual disability, moderate

50%

Long face

50%

Macrocephaly

50%

Mandibular prognathia

50%

Muscular hypotonia

50%

Narrow face

50%

Sinusitis

50%

Abnormality of the mitral valve

7.5%

Autism

7.5%

Cerebral cortical atrophy

7.5%

Dilatation of the ascending aorta

7.5%

Seizures

7.5%

Self-injurious behavior

7.5%

Strabismus

7.5%

Abnormal head movements

-

Coarse facial features

-

Congenital macroorchidism

-

Folate-dependent fragile site at Xq28

-

Hyperactivity

-

Incomplete penetrance

-

Joint laxity

-

Large forehead

-

Macroorchidism, postpubertal

-

Macrotia

-

Mitral valve prolapse

-

Pectus excavatum

-

Periventricular gray matter heterotopia

-

Poor eye contact

-

Scoliosis

-

X-linked dominant inheritance

-

Last updated: 3/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.